ArticleJournal of neurology, neurosurgery, and psychiatry1994
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
Article in Journal of neurology, neurosurgery, and psychiatry, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 102 citations in OpenAlex.
- Subcortical band heterotopia: electroclinical, radiological, and prognostic features in adults.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Article
- Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia.Epilepsia · 2019Article
- Neuronal migration disorders: Focus on the cytoskeleton and epilepsy.Neurobiology of disease · 2016Review
- Genetic malformations of the human frontal lobe.Epilepsia · 2010Article
- Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder.Nature medicine · 2009Article
- Malformations of cortical development and epilepsy.Dialogues in clinical neuroscience · 2008Review
- Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.American journal of human genetics · 2000Article
- Heterotopic neurogenesis in a rat with cortical heterotopia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1998Article
- Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.Journal of medical genetics · 1997Article
- Syndromes with lissencephaly.Journal of medical genetics · 1996Review
- The unfolding story of two lissencephaly genes and brain development.Molecular neurobiologyReview
- Type 1 lissencephaly and multiple afebrile seizures in a 2-month-old baby.Journal of pediatric neurosciencesArticle
- Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: an MRI study.Annals of Saudi medicineArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.
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